NIH Rare Diseases:42 Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. people with this condition are genetically male, with one x chromosome and one y chromosome in each cell. because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development.Â androgen insensitivity syndrome is caused by mutations in the ar gene and is inherited in an x-linked recessiveÂ pattern.
last updated: 3/30/2011

Disease Ontology:9 A testicular disease and hermaphroditism that is characterized by the partial or complete inability of the cell to respond to androgens in individuals with a karyotype of 46,xy resulting in female physical traits but male genetic makeup.

Genetics Home Reference:22 Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development.

OMIM:46 The androgen insensitivity syndrome is an X-linked recessive disorder in
which affected males have female external... (300068) more...

Wikipedia:64 Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability... more...

The in vivo role of androgen receptor SUMOylation as revealed by androgen insensitivity syndrome and prostate cancer mutations targeting the proline/glycine residues of synergy control motifs. (22829593)

Mukherjee S.... IA+iguez-LluhA- J.A.

2012

6

Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia. (22412043)